Frans W. Verheijen

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 31 publications

An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.

An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: January 16, 2026

Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.

Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.

Journal: American journal of medical genetics. Part A

Published: October 07, 2024

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: July 08, 2022

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 22, 2021

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 31, 2021

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Journal: European journal of human genetics : EJHG

Published: March 10, 2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Journal: American journal of human genetics

Published: February 05, 2020

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Journal: American journal of medical genetics. Part A

Published: November 24, 2019

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine

Published: August 29, 2019

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Journal: American journal of human genetics

Published: May 07, 2019

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Journal: American journal of human genetics

Published: December 06, 2018

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Journal: Brain : a journal of neurology

Published: September 07, 2018

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Last Updated: 09/26/2026